Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene

@article{Demelas2001IncompletePW,
  title={Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene},
  author={L. Demelas and G. Serra and M. Conti and A. Achene and C. Mastropaolo and N. Matsumoto and L. Dudlicek and P. Mills and W. Dobyns and D. Ledbetter and S. Das},
  journal={Neurology},
  year={2001},
  volume={57},
  pages={327 - 330}
}
X-linked isolated lissencephaly sequence (ILS) and subcortical band heterotopia are allelic human disorders associated with mutations of the DCX gene in both familial and sporadic forms. The authors describe a large Sardinian family in which three brothers with ILS have a missense mutation of the DCX gene. Their mother, a nonmosaic carrier, has a normal phenotype and cranial MRI. Skewed X-inactivation in the lymphocytes was also ruled out. This is the first report of an asymptomatic carrier of… Expand
24 Citations
Novel DCX mutation‐caused lissencephaly in a boy and very mild heterotopia in his mother
Mosaic DCX deletion causes subcortical band heterotopia in males
  • 17
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
  • 69
  • PDF
A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia
  • 1
  • PDF
Nonsyndromic mental retardation and cryptogenic epilepsy in women with Doublecortin gene mutations
  • 50
Topical Review: Neuronal Migration Disorders, Genetics, and Epileptogenesis
  • 46
  • PDF
...
1
2
3
...

References

SHOWING 1-10 OF 22 REFERENCES
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia
  • 137
  • PDF
Genetic and neuroradiological heterogeneity of double cortex syndrome
  • 86
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
  • 316
  • PDF
Doublecortin mutations cluster in evolutionarily conserved functional domains.
  • 126
  • PDF
...
1
2
3
...